Associated Papers
Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.
Kovalskaia VA et al.
Orphanet Journal of Rare Diseases, 2026
41645317 (PubMed )
Supplement: 13023_2026_4211_MOESM1_ESM.xlsx › ____1
Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants.
Yu K et al.
Nature Communications, 2023
36765055 (PubMed )
Supplement: 41467_2023_36367_MOESM1_ESM.pdf
Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia.
Yang Y et al.
Journal of Dental Research, 2013
23625373 (PubMed )
Supplement: ds_10.1177_0022034513487557.pdf
Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutations in the TNF domain of EDA (ectodysplasin A).
Li S et al.
Plos One, 2008
Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.
Schneider P et al.
The Journal of Biological Chemistry, 2001
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.
Vincent MC et al.
European Journal of Human Genetics : Ejhg, 2001
Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells.
Ezer S et al.
Human Molecular Genetics, 1999
The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.
Bayés M et al.
Human Molecular Genetics, 1998
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